CHRNA1 cholinergic receptor nicotinic alpha 1 subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: CHRNA1provided by HGNC
Official Full Name: cholinergic receptor nicotinic alpha 1 subunitprovided by HGNC
Primary source: HGNC:HGNC:1955
See related: Ensembl:ENSG00000138435 MIM:100690; AllianceGenome:HGNC:1955
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACHRA; ACHRD; CHRNA; CMS1A; CMS1B; CMS2A; FCCMS; SCCMS
Summary: The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]
Expression: Biased expression in prostate (RPKM 1.5), colon (RPKM 0.5) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (174747592..174764472, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (175236308..175253177, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (175612320..175629200, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis.
Title: CHRNA1 promotes the pathogenesis of primary focal hyperhidrosis.
Point Mutations of Nicotinic Receptor alpha1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia.
Title: Point Mutations of Nicotinic Receptor α1 Subunit Reveal New Molecular Features of G153S Slow-Channel Myasthenia.
Serum AChR alpha1 subunit protein concentrations were higher in patients with ant-AChR antibody-positive myasthenia gravis than those in controls.
Title: Increased serum acetylcholine receptor α1 subunit protein in anti-acetylcholine receptor antibody-positive myasthenia gravis.
In our analysis, we found one pair of SNPs in CHRNA1 and CHRNA7, plus one pair of SNPs in CHRNA2 and CHRNA3 reached corrected significance in tests for GxG interaction. Our study suggested evidence of interactions between CHRNs in controlling the risk of NSCL/P.
Title: Evaluating the effect of nicotinic cholinergic receptor genes on the risk of nonsyndromic cleft lip with or without cleft palate.
Data suggest that the mutations made the cholinergic receptor nicotinic alpha 1 subunit channel (CHRNA1) resistant to the antagonists, not by impairing antagonist binding, but rather by producing a gain-of-function phenotype, e.g. increased agonist sensitivity.
Title: High Throughput Random Mutagenesis and Single Molecule Real Time Sequencing of the Muscle Nicotinic Acetylcholine Receptor.
Study indicated that nicotinic acetylcholine receptor alpha 1-subunit peptides may act as receptor decoy molecules and inhibit the binding of virus to the native host cell receptors and hence may reduce viral infection.
Title: Effect of nicotinic acetylcholine receptor alpha 1 (nAChRα1) peptides on rabies virus infection in neuronal cells.
ChRnA1 gene variants did not affect the pharmacodynamics of rocuronium.
Title: Role of SLCO1B1, ABCB1, and CHRNA1 gene polymorphisms on the efficacy of rocuronium in Chinese patients.
Cholesterol and CAV-1 modulate the function and dynamics of the slow channel congenital myasthenia syndrome alphaC418W nicotinic acetylcholine receptor mutation.
Title: Lateral diffusion, function, and expression of the slow channel congenital myasthenia syndrome αC418W nicotinic receptor mutation with changes in lipid raft components.
nicotine contributes to the progression and erlotinib-resistance of the NSCLC xenograft model via the cooperation between nAChR and EGFR.
Title: Nicotine induces resistance to erlotinib via cross-talk between α 1 nAChR and EGFR in the non-small cell lung cancer xenograft model.
show that AON complementary to the 5' splice site of the exon was the most effective at exon skipping of the minigene with causative mutations, as well as endogenous wild-type CHRNA1
Title: Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes.

Submit: New GeneRIF Correction See all GeneRIFs (30)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
CHRNA1-Related Congenital Myasthenic Syndrome MedGen: CN119608 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Congenital myasthenic syndrome 1A MedGen: C2931107 OMIM: 601462 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Lethal multiple pterygium syndrome MedGen: C1854678 OMIM: 253290 GeneReviews: Not available	Compare labs
Myasthenic syndrome, congenital, 1B, fast-channel MedGen: C4225405 OMIM: 608930 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 gp120 binds to nicotinic acetylcholine receptors in muscle cells and neurons	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Chrna1 (e-PCR), detects polymorphism
- UniSTS:531496

CHRNA1 (e-PCR), detects polymorphism
- UniSTS:510363

D2S1411 (e-PCR)
- UniSTS:81579

D2S2716 (e-PCR)
- UniSTS:25321

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to acetylcholine binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
contributes_to acetylcholine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to acetylcholine receptor activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables acetylcholine-gated monoatomic cation-selective channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylcholine-gated monoatomic cation-selective channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to acetylcholine-gated monoatomic cation-selective channel activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in acetylcholine receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic cation transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in muscle cell cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in musculoskeletal movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular junction development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuromuscular process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuron cellular homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neuronal action potential	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to nicotine	IBA Inferred from Biological aspect of Ancestor more info
involved_in skeletal muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal muscle tissue growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in synaptic transmission, cholinergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of acetylcholine-gated channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of acetylcholine-gated channel complex	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic membrane	NAS Non-traceable Author Statement more info	PubMed
located_in postsynaptic specialization membrane	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: acetylcholine receptor subunit alpha

Names: acetylcholine receptor, nicotinic, alpha 1 (muscle); cholinergic receptor, nicotinic alpha 1; cholinergic receptor, nicotinic, alpha 1 (muscle); cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle); muscle nicotinic acetylcholine receptor; nicotinic acetylcholine receptor alpha subunit; nicotinic cholinergic receptor alpha 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008172.1 RefSeqGene

Range

5001..21881

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000079.4 → NP_000070.1 acetylcholine receptor subunit alpha isoform b precursor

See identical proteins and their annotated locations for NP_000070.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.

Source sequence(s)

AK315312, BC043196, Y00762

Consensus CDS

CCDS2261.1

UniProtKB/Swiss-Prot

B4DRV6, D3DPE8, P02708

UniProtKB/TrEMBL

D3DPE7, E7ENE5, Q53SH4

Related

ENSP00000261008.5, ENST00000348749.9

Conserved Domains (3) summary

TIGR00860
Location:4 → 447

LIC; Cation transporter family protein

pfam02931
Location:24 → 231

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:238 → 446

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
NM_001039523.3 → NP_001034612.1 acetylcholine receptor subunit alpha isoform a precursor

See identical proteins and their annotated locations for NP_001034612.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).

Source sequence(s)

AK315312, BC043196, CD013889

Consensus CDS

CCDS33331.1

UniProtKB/Swiss-Prot

P02708

UniProtKB/TrEMBL

Q53SH4

Related

ENSP00000261007.5, ENST00000261007.9

Conserved Domains (3) summary

TIGR00860
Location:4 → 472

LIC; Cation transporter family protein

pfam02931
Location:24 → 256

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:263 → 471

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region